January 16, 2020January 17, 2020
Enzyme Replacement Therapy for Fabry Disease — What to Keep in Mind
Health Insights
Enzyme replacement therapy (ERT), such as Fabrazyme, addresses the primary cause of Fabry disease — mutations in the GLA ... Read more
January 15, 2020January 15, 2020
Imaging Technique That Detects Changes in Eye Blood Vessels May Help in Early Diagnosis of Fabry, Study Says
News
Detectable differences in blood vessel architecture in the eyes of people with Fabry disease could prove useful in diagnosing ... Read more
January 9, 2020January 10, 2020
Cardiac Care in Fabry Disease
Health Insights
Heart disease is common in Fabry disease patients, and those with the disease should be vigilant about taking steps ... Read more
January 8, 2020January 8, 2020
High-risk Screenings for Fabry Among Chronic Kidney Disease Patients Should Use Biomarkers Other Than Gb3, Study Says
News
High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than ... Read more
January 8, 2020January 7, 2020
How I Found My Road to Exercise
Columns, The Fabry Files - a Column by Eunice White
It’s 4:45 a.m. and the alarm is sounding. What comes to mind when you read that sentence? Maybe something ... Read more
December 18, 2019December 18, 2019
Cardiac Health Checks Should Be Given Women with GLA Mutations, Finish Study Suggests
News
A common GLA mutation is highly associated with the development of Fabry disease in both men and women, and ... Read more
December 17, 2019December 13, 2019
Facing Fears About Fabry After a Hospital Admission
Chronically Caring – a Column by Morgan Yontz, Columns
In recent weeks I have had a traumatic medical experience that has affected me in ways I couldn’t have ... Read more
December 11, 2019December 10, 2019
Gene Therapy Takes Center Stage at 2019 NORD Summit
News
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of ... Read more
December 6, 2019December 6, 2019
HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases
News
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases ... Read more
December 4, 2019December 4, 2019
Investigators Discover New GLA Mutation Likely Associated With Fabry Disease, Case Report Shows
News
Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome — that ... Read more
December 4, 2019December 6, 2019
Kidney Care in Fabry Disease
Health Insights
Kidney problems are common in people with Fabry disease. They are caused by the deposition of certain fatty molecules, known ... Read more
December 4, 2019December 2, 2019
Answering the Hard Question for Which No Parent Is Prepared
Columns, The Fabry Files - a Column by Eunice White
“Mom, can Fabry kill you?” This wasn’t the first time this question was posed to me. The first time ... Read more

January 16, 2020January 17, 2020

Enzyme Replacement Therapy for Fabry Disease — What to Keep in Mind

Health Insights

Enzyme replacement therapy (ERT), such as Fabrazyme, addresses the primary cause of Fabry disease — mutations in the GLA gene that lead to the lack of alpha-galactosidase A enzyme, ... Read more

January 15, 2020January 15, 2020

Imaging Technique That Detects Changes in Eye Blood Vessels May Help in Early Diagnosis of Fabry, Study Says

News

Detectable differences in blood vessel architecture in the eyes of people with Fabry disease could prove useful in diagnosing the disease early, a study has found. The study, “Optical ... Read more

January 9, 2020January 10, 2020

Cardiac Care in Fabry Disease

Health Insights

Heart disease is common in Fabry disease patients, and those with the disease should be vigilant about taking steps to optimize their cardiac care. Fabry disease is a rare ... Read more

January 8, 2020January 8, 2020

High-risk Screenings for Fabry Among Chronic Kidney Disease Patients Should Use Biomarkers Other Than Gb3, Study Says

News

High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a ... Read more

January 8, 2020January 7, 2020

How I Found My Road to Exercise

Columns, The Fabry Files - a Column by Eunice White

It’s 4:45 a.m. and the alarm is sounding. What comes to mind when you read that sentence? Maybe something like sleep, dark, too early, nighttime, must be a siren ... Read more

December 18, 2019December 18, 2019

Cardiac Health Checks Should Be Given Women with GLA Mutations, Finish Study Suggests

News

A common GLA mutation is highly associated with the development of Fabry disease in both men and women, and even women with no typical disease symptoms show signs of ... Read more

December 17, 2019December 13, 2019

Facing Fears About Fabry After a Hospital Admission

Chronically Caring – a Column by Morgan Yontz, Columns

In recent weeks I have had a traumatic medical experience that has affected me in ways I couldn’t have imagined. I began to feel unwell three weekends ago and ... Read more

December 11, 2019December 10, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 6, 2019December 6, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

News

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

December 4, 2019December 4, 2019

Investigators Discover New GLA Mutation Likely Associated With Fabry Disease, Case Report Shows

News

Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome — that is likely associated both with Fabry disease and heart disease, ... Read more